Description:
BREAST CANCER, TYPE 1; BRCA1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Heritable Cancer Syndromes and other Cancers |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Molecular characterization after cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| Gene |
BRCA1 |
| Chromosomal Location |
17q21.31 |
| Allelic Variant 1 |
113705.0013; BREAST-OVARIAN CANCER |
| Identified Mutation |
GLU1250TER; Castilla et al. [Nature Genetics 8: 387-391 (1994)] studied 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene. They identified a G-to-T substitution in exon 11 at position 3867, leading to a premature termination codon in place of glutamic acid-1250 and a truncated protein.
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| Remarks |
Positive family history; breast cancer diagnosed at age 50 and ovarian cancer at age 56; BRCA1 germline mutation is Glu1250ter in exon 11, codon 1250 |
| Garvin AM, A complete protein truncation test for BRCA1 and BRCA2. Eur J Hum Genet6:226-34 1998 |
| PubMed ID: 9781026 |
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| Garvin AM, Spycher M, Haner M, Torhorst J, Muller H, Herrmann R, Rochlitz C, Weber W, Scott RJ, BRCA1 mutations in a selected series of breast/ovarian cancer patients. J Med Genet33:721-5 1996 |
| PubMed ID: 8880569 |
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| Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, Boyd J, Lubin MB, Deshano ML, Brody LC, et al, Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet8:387-91 1994 |
| PubMed ID: 7894491 |
| dbSNP |
dbSNP ID: 11867 |
| Gene Cards |
BRCA1 |
| Gene Ontology |
GO:0000151 ubiquitin ligase complex |
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GO:0003684 damaged DNA binding |
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GO:0003713 transcription coactivator activity |
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GO:0004842 ubiquitin-protein ligase activity |
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GO:0005515 protein binding |
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GO:0005615 extracellular space |
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GO:0005622 intracellular |
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GO:0005634 nucleus |
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GO:0005667 transcription factor complex |
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GO:0006357 regulation of transcription from Pol II promoter |
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GO:0006359 regulation of transcription from Pol III promoter |
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GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator |
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GO:0008270 zinc ion binding |
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GO:0008274 gamma-tubulin ring complex |
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GO:0015631 tubulin binding |
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GO:0016563 transcriptional activator activity |
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GO:0016567 protein ubiquitination |
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GO:0042127 regulation of cell proliferation |
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GO:0042981 regulation of apoptosis |
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GO:0045739 positive regulation of DNA repair |
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GO:0045786 negative regulation of cell cycle |
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GO:0046600 negative regulation of centriole replication |
| NCBI Gene |
Gene ID:672 |
| NCBI GTR |
113705 BREAST CANCER 1 GENE; BRCA1 |
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604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 |
| OMIM |
113705 BREAST CANCER 1 GENE; BRCA1 |
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604370 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; BROVCA1 |
| Omim Description |
BREAST CANCER 1, EARLY-ONSETBREAST-OVARIAN CANCER, INCLUDED |
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BREAST CANCER, TYPE 1; BRCA1 |
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